Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035095 | SCV000058735 | likely benign | not specified | 2010-01-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000035095 | SCV000529908 | likely benign | not specified | 2016-07-14 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001437579 | SCV001640436 | likely benign | 3-Methylglutaconic aciduria type 2 | 2024-01-11 | criteria provided, single submitter | clinical testing |